TABLE 2.
Genotype-phenotype correlation of CLN5 mutations.
| Patient no. | Orientation | Mutation | Impacts on CLN5 | Country of origin | Onset age | Initial symptom |
| 1 | Homozygous | p.Ser98Leufs*13 | / | Argentina | 4M | N.A |
| 2 | Homozygous | p.(Arg112His) | ER retention | Colombia | 9Y | Visual failure |
| 3 | Homozygous | p.(Arg145Pro) | Impairing protein trafficking to lysosome | China | 5Y | Paroxysmal epilepsy |
| 4 | Homozygous | p.(Gly177Trpfs*10) | / | Pakistan | 5Y | Motor difficulty |
| 5 | Homozygous | p.(Met240Valfs*13) | / | China | 5Y | Mental and motor development retardation |
| 6 | Homozygous | p.(Trp247Cysfs*5) | / | Middle East | 5Y | NA |
| 7 | Homozygous | p.(Trp247*) | / | Iran | 3Y | Ataxia and myoclonus |
| 8 | Homozygous | p.(Asp279Asn) | ER retention | Netherland | 2Y | NA |
| 9 | Homozygous | p.(Arg307Glufs*29) | / | Egypt | 6Y | Motor difficulty |
| 10 | Homozygous | p.(Ser312Asn) | Affecting ER-lysosome protein trafficking | Italy | 50-56Y | Unsteady gait |
| 11 | Homozygous | p.(Tyr342*) | / | Czech Republic | 5.5Y | NA |
| 12 | Homozygous | p.(Glu352*) | Unstable protein | UK | 5~6.6Y | NA |
| 13 | Homozygous | p.(Leu358Alafs*4) | ER retention | Pakistan | 4-5Y | NA |
| 14 | Homozygous | p.Lys368Serfs*15 | / | Spain | 7Y | NA |
| 15 | Homozygous | p.(Trp379Cys) | ER retention | Afghanistan | 2~3y | NA |
| 16 | Homozygous | p.(Tyr392*) | ER retention, destabilized polypeptide | Finland | 3~4Y | NA |
| 17 | Homozygous | c.320+8C>T, p.(=) | / | Canada | 1Y | NA |
| 18 | Compound heterozygous | p.(Arg112Pro) | ER retention | Portugal | 3Y | Attention deficits and speech regression |
| p.Gln189* | Resulting in a mRNA non-producing allele | |||||
| 19 | Compound heterozygous | p.Trp224* | / | USA | 5Y | Motor difficulty andvisual loss |
| p.Lys368Serfs*15 | / | |||||
| 20 | Compound heterozygous | p.Trp224* | / | USA | 5Y | Seizures |
| p.Thr303Cysfs*10 | / | |||||
| 21 | Compound heterozygous | p.Tyr374Cys | Protein destabilization | USA | 17Y | Cognitive regressionand visual loss |
| p.Cys126Tyr | / | |||||
| 22 | Compound heterozygous | p.Tyr374Cys | Protein destabilization | USA | 17Y | Motor difficulty |
| p.Thr303Cysfs*10 | / | |||||
| 23 | Compound heterozygous | p.Trp75* | Encoding a truncated polypeptide | Sweden | 8Y | Motor difficulty |
| p.Trp224Leufs*30 | / | |||||
| 24 | Compound heterozygous | p.Leu358Alafs*4 | / | China | 4Y | Visual loss |
| p.Trp207Ser | / | |||||
| 25 | Compound heterozygous | p.Tyr392* | ER retention, destabilized polypeptide | Finland | 4Y | NA |
| p.Trp224Leufs*30 | / |
The slash (/) indicates the mutation lacks of functional study in vitro; NA means not available.